A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2221441



Internal ID17864660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217756696..217766300hg38UCSC Ensembl
Innerchr2:218621419..218631023hg19UCSC Ensembl
Innerchr2:218329664..218339268hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg389605
hg199605
hg189605
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979174
Supporting Variants
SamplesHGDP01284
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2221441
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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